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NM_000314.8(PTEN):c.178A>T (p.Lys60Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002406903.2

Allele description [Variation Report for NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)]

NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)
HGVS:
  • NC_000010.11:g.87925526A>T
  • NG_007466.2:g.67088A>T
  • NM_000314.8:c.178A>TMANE SELECT
  • NM_001304717.5:c.697A>T
  • NM_001304718.2:c.-541-5520A>T
  • NP_000305.3:p.Lys60Ter
  • NP_001291646.4:p.Lys233Ter
  • LRG_311t1:c.178A>T
  • LRG_311:g.67088A>T
  • NC_000010.10:g.89685283A>T
  • NM_000314.4:c.178A>T
Protein change:
K233*
Links:
dbSNP: rs1554897262
NCBI 1000 Genomes Browser:
rs1554897262
Molecular consequence:
  • NM_001304718.2:c.-541-5520A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000314.8:c.178A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001304717.5:c.697A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002716098Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 5, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002716098.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.K60* pathogenic mutation (also known as c.178A>T), located in coding exon 3 of the PTEN gene, results from an A to T substitution at nucleotide position 178. This changes the amino acid from a lysine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024